R1627W (p.Arg1627Trp) variant of EP300 (Histone acetyltransferase p300)
R1627W (p.Arg1627Trp) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The record also includes structural context.
R1627W (p.Arg1627Trp) variant details
- p.Arg1627Trp
- NCI-TCGA Cosmic COSV5432
- NCI-TCGA Cosmic COSV5434
- Ensembl rs2059200406
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely pathogenic
- Structural context available